ArticleAnnals of clinical and translational neurology2022
Novel mutations in HTRA1-related cerebral small vessel disease and comparison with CADASIL.
Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Experimental models of cerebral small vessel disease: Physiological constraints, translational challenges and future directions.The Journal of physiology · 2026Review
- Diagnostic performance of "pons chocolate chip sign" in heterozygous HTRA1-related cerebral small vessel disease.BMC neurology · 2025Article
- Inappropriate interpretation of non-pathogenic HTRA1 variant as pathogenic.Annals of clinical and translational neurology · 2023Article
- Reply to: "Inappropriate interpretation of non-pathogenic HTRA1 variant as pathogenic".Annals of clinical and translational neurology · 2023Article
- Heterozygous Pathogenic and Likely Pathogenic SymptomaticInternational journal of general medicine · 2023Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThere is evidence showing both heterozygous HTRA1 and homozygous HTRA1 mutations as causal for familial cerebral small vessel disease (CSVD). The clinical and neuroimaging signs of heterozygous HTRA1-related CSVD can mimic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We aimed to characterize the genotypic and phenotypic features of HTRA1-related CSVD, and we compared the features of heterozygous HTRA1-related CSVD and CADASIL.
methodsWe carried out genetic sequencing in a series of unrelated patients with suspected familial CSVD from China. Clinical and imaging characteristics of heterozygous HTRA1-related CSVD and CADASIL were compared.
resultsWe identified nine heterozygous HTRA1 mutations and one homozygous HTRA1 mutation, seven of which are novel. Compared with CADASIL, patients with heterozygous HTRA1-related CSVD had a higher proportion of spine disorders and a lower proportion of white matter hyperintensities involving the anterior temporal lobe (p < 0.001).
interpretationThis study shows that most HTRA1-related CSVD patients in China carry heterozygous HTRA1 mutations. The specific extra-neurological features and neuroimaging features reveal informative differences between heterozygous HTRA1-related CSVD and CADASIL. We expand the mutational spectrum of HTRA1.
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